DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Crohn Disease ×

Variants associated to the Gene: NOD2 ×

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs2066844	NOD2	0.587	0.520	16	50712015	missense variant	C/T	snv	2.6E-02	2.9E-02	54
rs2066845	NOD2	0.611	0.600	16	50722629	missense variant	G/C;T	snv	1.1E-02; 2.2E-04		46
rs2066847	NOD2	0.716	0.400	16	50729868	frameshift variant	C/-;CC	delins		1.5E-02	18
rs2066842	NOD2	0.763	0.200	16	50710713	missense variant	C/A;T	snv	4.0E-06; 0.19		15
rs771184127	NOD2	0.790	0.200	16	50710807	missense variant	G/A	snv	1.2E-05	2.1E-05	9
rs5743293	NOD2	0.807	0.200	16	50729868	frameshift variant	C/-;CC	delins			7
rs1384936174	NOD2	0.827	0.040	16	50710812	missense variant	G/A;T	snv	4.0E-06; 4.0E-06		6
rs104895467	NOD2	0.851	0.120	16	50716899	missense variant	A/G	snv	1.2E-03	7.5E-04	5
rs2076756	NOD2	0.882	0.040	16	50722970	intron variant	A/G	snv		0.17	5
rs3135500	NOD2	0.851	0.160	16	50732975	3 prime UTR variant	G/A	snv		0.44	5
rs72796353	NOD2	0.882	0.080	16	50712383	3 prime UTR variant	A/C	snv	1.3E-02	1.4E-02	5
rs72796367	NOD2	0.827	0.120	16	50728860	intron variant	T/C	snv		1.9E-02	5
rs758548184	NOD2	0.851	0.240	16	50699557	missense variant	G/C	snv			5
rs104895461	NOD2	0.882	0.120	16	50710912	missense variant	G/A;C	snv			4
rs2066843	NOD2	0.925	0.040	16	50711288	synonymous variant	C/A;T	snv	0.19		4
rs1292975971	NOD2	0.925	0.040	16	50711664	synonymous variant	C/T	snv	4.0E-06	1.4E-05	3
rs17221417	NOD2	0.925	0.040	16	50705671	intron variant	C/G	snv		0.20	3
rs3135499	NOD2	0.882	0.160	16	50732216	splice donor variant	A/C	snv		0.45	3
rs527892258	NOD2	0.925	0.040	16	50723350	missense variant	A/C;G	snv	1.7E-04; 4.4E-05		3
rs5743278	NOD2	0.882	0.080	16	50712085	missense variant	C/G	snv	3.2E-03	1.3E-02	3
rs747581406	NOD2	0.925	0.040	16	50711546	synonymous variant	C/T	snv	4.0E-06		3
rs104895438	NOD2	0.925	0.120	16	50711745	missense variant	G/A;T	snv	6.4E-04; 5.6E-05		2
rs104895486	NOD2	0.925	0.040	16	50716670	missense variant	C/G;T	snv	4.0E-06; 8.0E-05		2
rs1199323686	NOD2	0.925	0.040	16	50716670	frameshift variant	C/-	del			2
rs1369602268	NOD2	1.000	0.040	16	50707883	missense variant	T/C	snv			2